Answer
Genetic basis of the Pompe disease
- Pompe disease is an autosomal recessive
disorder.
- Mutation in gene
GAA on chromosome
17 causes pompe disese.
- Gene GAA provides information for production of an enzyme acid alpha-glucosidase
that activates lysozomes and breaks glycogen.
- Mutation impairs the information and prevent breakdown of
glycogen leading to toxic build up of glycogen in muscle and
liver.
- This condition leads to muscle weakness, enlarged liver and
fatiuge.